BIOMARCADORES GENÉTICOS NO DIAGNÓSTICO PRECOCE DA PRÉ-ECLÂMPSIA: DESAFIOS E PERSPECTIVAS

• DOI: https://doi.org/10.22533/at.ed.1612516102

• Palavras-chave: Genotipagem; Biomarcadores; Pré-eclâmpsia; Diagnóstico precoce.

• Keywords: Genotyping; Biomarkers; Preeclampsia; Early diagnosis.

• Abstract: Preeclampsia is a multifactorial syndrome exclusive to pregnancy, characterized by the onset of arterial hypertension after the 20th week, associated with proteinuria or target-organ dysfunction. It represents one of the leading causes of maternal-fetal morbidity and mortality, with complications such as eclampsia, HELLP syndrome, and fetal growth restriction. Its etiopathogenesis involves a failure in the remodeling of uterine spiral arteries, resulting in placental hypoxia, oxidative stress, and systemic endothelial dysfunction, accompanied by exaggerated immune activation and epigenetic alterations. Genetic factors also contribute, with evidence of familial predisposition and multifactorial inheritance. In this context, there is growing interest in genetic biomarkers capable of early identification of at-risk pregnant women. Among the most studied are VEGF-A, essential for placental angiogenesis; sFlt-1, which antagonizes VEGF and rises before clinical signs appear; PlGF, reduced in severe cases; PAPP-A, whose low first-trimester concentration predicts early-onset forms; ADAM-12, associated with trophoblastic invasion; and PP-13, involved in immune tolerance and vascular remodeling. Polymorphisms in these genes, as well as regulation by microRNAs and epigenetic mechanisms, influence the expression of these proteins. Despite their promise, such markers are not yet routinely recommended by FEBRASGO or the WHO, as disease prediction remains largely based on clinical history. Detection techniques include PCR, RFLP, SNP analysis, and genome-wide association studies (GWAS), which allow identification of variants and calculation of polygenic risk scores. However, clinical heterogeneity and lack of standardization limit their clinical use. In conclusion, this chapter aimed to review the main genetic biomarkers associated with preeclampsia and their pathophysiological implications, highlighting that although molecular understanding of the disease has advanced considerably, large population-based studies and clinical validation are still required before these markers can be effectively incorporated into preeclampsia screening and management.